All variants in the ISPD gene

This database is one from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001101426.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/? 2 c.375_381del r.(?) p.(Arg126Glyfs*7) - likely pathogenic g.16445841_16445847del g.16406216_16406222del - - ISPD_000018 - - - - Germline - - - - - Tom Winder
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